Variant report

Variant	rs6863981
Chromosome Location	chr5:119475317-119475318
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs55654442	0.85[AMR][1000 genomes]
rs56229320	0.87[AMR][1000 genomes]
rs58074739	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59633842	0.85[AMR][1000 genomes]
rs6864658	0.85[AMR][1000 genomes]
rs6866287	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6882630	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73262690	0.85[AMR][1000 genomes]
rs73266625	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7722747	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1023146	chr5:119301891-119623417	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv537883	chr5:119301891-119623417	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	esv3331559	chr5:119306944-119536554	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv882780	chr5:119332670-119488924	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv882781	chr5:119369334-119557828	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv599600	chr5:119399177-119507243	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1026457	chr5:119406305-119493661	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv537885	chr5:119406305-119493661	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv432803	chr5:119419101-119659101	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv2762547	chr5:119427979-119487383	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv1016024	chr5:119460796-119509057	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	nsv1018247	chr5:119469805-119511846	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119472600-119477400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:119473200-119480600	Weak transcription	Pancreas	Pancrea
3	chr5:119473800-119475400	Weak transcription	Aorta	Aorta
4	chr5:119473800-119476400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:119474000-119476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:119474200-119475600	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:119474200-119475600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:119474200-119476600	Enhancers	Hela-S3	cervix
9	chr5:119474200-119476600	Enhancers	NHLF	lung
10	chr5:119474200-119477400	Enhancers	NHDF-Ad	bronchial
11	chr5:119474200-119477600	Enhancers	Fetal Lung	lung
12	chr5:119474400-119475400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:119474400-119475400	Enhancers	Adipose Nuclei	Adipose
14	chr5:119474400-119475400	Weak transcription	Placenta	Placenta
15	chr5:119474400-119475400	Enhancers	Osteobl	bone
16	chr5:119474400-119475600	Enhancers	Liver	Liver
17	chr5:119474400-119475600	Enhancers	A549	lung
18	chr5:119474400-119476800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:119474800-119475600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:119474800-119477600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr5:119474800-119482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:119475000-119475400	Enhancers	HMEC	breast
23	chr5:119475200-119475400	Enhancers	HSMM	muscle
24	chr5:119475200-119475600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:119475200-119475600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:119475200-119475800	Enhancers	Ovary	ovary
27	chr5:119475200-119476400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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